Results 51 to 60 of about 12,756 (179)

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Orphanet Journal of Rare Diseases
Background SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing,
L. Sangiorgi, M. Boarini, M. Mordenti, V. Wang, I. Westerheim, R. T. Skarberg, M. Cavaller-Bellaubi, James Clancy, R. Pinedo-Villanueva, E. J. V. Lente, M. Marchetti   +10 more
doaj   +1 more source

Quantification of SARM1 NADase Activity in Human Peripheral Blood Mononuclear Cells

The FASEB Journal, Volume 40, Issue 9, 15 May 2026.
Proposed model for NAD+ metabolism in (A) control and (B) SARM1 activated PBMCs. In native form, 3‐AP and Vacor compete with NAM as an alternative substrate for NAMPT. This consequently decreases generation of NMN and biosynthesis of NAD+ is limited by both a reduction in precursor NMN and direct inhibition of NMNAT by Vacor‐MN and 3‐AP‐MN.
Lila F. Dabill, Ivana R. Shen, Jennifer M. Brazill, Alicia Neiner, Yo Sasaki, Erica L. Scheller   +5 more
wiley   +1 more source

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human Genome Variation
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear.
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue   +8 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Педиатрическая фармакология, 2015
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms.
G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margieva   +2 more
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Revista Paulista de Pediatria
Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass ...
Vicky Nogueira Pileggi, Antonio Rodolpho Hakime Scalize, José Simon Camelo Junior   +2 more
doaj   +1 more source

Systematic Review on the Incidence of Bisphosphonate Related Osteonecrosis of the Jaw in Children Diagnosed with Osteogenesis Imperfecta

eJournal of Oral Maxillofacial Research, 2014
Objectives: To conduct a systematic review of epidemiological literature to determine the incidence of bisphosphonate related osteonecrosis of the jaw occurring either spontaneously or after dental surgery, in children and adolescents diagnosed with ...
Anusha Adeline Hennedige, Jap Jayasinghe, Janette Khajeh, Tatiana V. Macfarlane   +3 more
doaj   +1 more source

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

RGO: Revista Gaúcha de Odontologia, 2020
Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis ...
Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA   +5 more
doaj   +1 more source

Morphophunctional features of blood mononuclear cells culture in patients with osteogenesis imperfecta: clinicodiagnostic observation

Бюллетень сибирской медицины, 2010
The use of intramedullary bioactive osteosynthesis combined with Ilizarov’s apparatus is promoting to correction of skeletal deformations and is allowing putting patients with osteogenesis imperfecta on their legs.
I. A. Khlusov, T. V. Saprina, K. A. Nechayev, M. V. Dvornichenko, N. M. Shevtsova, K. V. Zaytsev, A. V. Popkov   +6 more
doaj   +1 more source